Genetic analysis of a pedigree affected with hypohidrotic ectodermal dysplasia caused by a novel mutation of EDA gene

Q4 Medicine 中华实用儿科临床杂志 Pub Date : 2020-03-19 DOI:10.3760/CMA.J.CN101070-20190304-00151

Ke Yang, Yuwei Zhang, Guiyu Lou, Na Qi, Hongjie Zhu, Litao Qin, Bing M. Zhang, Dan Wang

引用次数: 0

Abstract

目的对一个临床诊断为少汗性外胚层发育不良患儿的外胚层发育不良候选基因进行二代测序，以期发现致病位点以明确诊断。方法对家系中一例患儿的少汗性外胚层发育不良的候选基因进行二代测序，并利用Sanger测序法对筛选出的可疑致病突变进行验证，同时在家系中其他成员和100例无关联健康个体中检测此突变。结果在患儿和其弟弟(亦为患者)中发现EDA c．300_301delCC(p.Pro101His fs*11)缺失移码突变，其母亲为该突变的携带者，其父亲和妹妹无突变。同时100例无关联正常个体均无此突变。结论 EDA基因c.300_301delCC(p.Pro101His fs*11)缺失移码突变可能是该家系中2例患儿罹患少汗性外胚层发育不良的主要原因。

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EDA基因突变引起的少汗性外胚层发育不良家系的遗传分析

Objective: To perform second-generation sequencing of a candidate gene for ectodermal dysplasia in a child diagnosed with hypohidrotic ectodermal dysplasia, in order to identify the pathogenic site and clarify the diagnosis. Method: A candidate gene for hypohidrotic ectodermal dysplasia in a child from a family was sequenced in the second generation, and the suspected pathogenic mutation screened was verified using the Sanger sequencing method. This mutation was also detected in other members of the family and 100 unrelated healthy individuals. As a result, EDA c.300 was found in the patient and his younger brother (also a patient)_ 301delCC (p.Pro101His fs * 11) lacks a frameshift mutation, and its mother is a carrier of the mutation, while its father and sister have no mutations. At the same time, 100 unrelated normal individuals did not have this mutation. Conclusion: EDA gene c.300_ The deletion and frameshift mutation of 301delCC (p.Pro101His fs * 11) may be the main cause of hypohidrotic ectodermal dysplasia in two children in this family.

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来源期刊

中华实用儿科临床杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

0.60

自引率

0.00%

发文量

14243

期刊介绍： Chinese Journal of Applied Clinical Pediatrics ( semi-monthly ) is a core journal of paediatrics under the supervision of China Association for Science and Technology, sponsored by Chinese Medical Association and undertaken by Xinxiang Medical College. Founded in 1986, it is openly circulated both at home and abroad. The journal has several columns, such as Expert Forum, Experimental Research and Paediatric Surgery, which are mainly for paediatric medical workers and medical researchers in hospitals. Its purpose is to reflect the new theories and technologies in paediatric medicine and scientific research at home and abroad, and to promote academic exchanges. Chinese Journal of Applied Clinical Pediatrics is a source journal of China Science Citation Database (CSCD), a core journal of Peking University, a source journal of Chinese science and technology paper statistics (China Science and Technology Core Journals), a core academic journal of RCCSE, a high-quality scientific and technical journal of China, a high-quality scientific and technical journal of China Association for Science and Technology, and a high-quality scientific and technical journal of China Biomedical Science and Technology Association. We have been published in China Biomedical Literature Database (SinoMed), China Knowledge Network, Wanfang Data Knowledge Service Platform, China Academic Journal Abstracts, Scopus Database, Chemical Abstracts (USA), Japan Science and Technology Agency (JSTA) Database, Copernicus Abstracts (Poland), Abstracts of the Centre for Agricultural and Biological Sciences (CABS) of the United Kingdom, Cambridge Scientific Abstracts ProQuest Database, WHO Medical Journal of the Western Pacific Region (WMPR), and WHO Medical Journal of the Western Pacific Region (WMPR) of the United States. We have been included in dozens of authoritative databases at home and abroad, such as WHO Western Pacific Region Index of Medicine (WPRIM), Ullrich's Guide to Periodicals, and so on.